It has been more than a decade since heterozygous loss-of-function mutations in the
progranulin gene (GRN) were first identified as an important genetic cause of frontotemporal …

Loss of function mutations in progranulin cause tau-negative frontotemporal lobar
degeneration with ubiquitin-positive inclusions. A major protein component of these …

Gene coding for progranulin, GRN, is a major gene linked to frontotemporal lobar
degeneration. While most of pathogenic GRN mutations are null mutations leading to …

Null mutations in the progranulin gene (PGRN) were recently reported to cause tau-negative
frontotemporal dementia linked to chromosome 17. We assessed the genetic contribution of …

The granulin protein (also known as, and hereafter referred to as, progranulin) is a secreted
glycoprotein that contributes to overall brain health. Heterozygous loss-of-function mutations …

Frontotemporal lobar degeneration (FTLD) is a neurodegenerative condition characterized
by focal degeneration of the frontal and temporal lobes of the brain. Autosomal dominantly …

Background: Pathogenic mutations in the granulin gene (GRN) are causative in 5-10% of
patients with frontotemporal dementia (FTD), mostly leading to reduced progranulin protein …

Importance Mutations in the progranulin gene are known to cause diverse clinical
syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with …

Progranulin (GRN) is a secreted growth factor involved in various cellular functions, and loss-
of-function mutations are a major cause of frontotemporal lobar degeneration (FTLD) with …

It is well known that progranulin protein is involved in wound repair, inflammation, and tumor
formation. The wedding between progranulin and brain was celebrated in 2006 with the …